Prenatal genetic testing 1: screening tests.


Journal

Current opinion in pediatrics
ISSN: 1531-698X
Titre abrégé: Curr Opin Pediatr
Pays: United States
ID NLM: 9000850

Informations de publication

Date de publication:
01 12 2022
Historique:
pubmed: 10 9 2022
medline: 4 11 2022
entrez: 9 9 2022
Statut: ppublish

Résumé

Prenatal genetic testing can be divided into two categories: screening and diagnostic. This article will focus on reviewing prenatal genetic screening tests. Cell-free DNA (cfDNA) is a new prenatal genetic screening test with a high degree of accuracy for identifying certain genetic conditions like trisomy 21, 18, and 13. However, cfDNA has also been applied in the screening of other genetic conditions without similar research support. Prenatal genetic screening evaluates at risk pregnancies - including both carrier screening, which can be done at any point in a person's life, and aneuploidy screening, which is done during pregnancy. Within screening, there is a new noninvasive technology that has revolutionized prenatal screening called cfDNA testing. Compared to previous methods, this technology is easier to administer and more accurate for certain genetic conditions. However, cfDNA has also been applied to test for less common genetic conditions without efficacious research support. In this time of expansion in genetic testing, it is important that providers educate themselves on the research support behind each type of genetic test. It is vital that professional organizations continuously update their testing approach to match these rapidly evolving technologies and the patient population they serve.

Identifiants

pubmed: 36081381
doi: 10.1097/MOP.0000000000001172
pii: 00008480-202212000-00005
doi:

Substances chimiques

Cell-Free Nucleic Acids 0

Types de publication

Review Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

544-552

Commentaires et corrections

Type : CommentIn

Informations de copyright

Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.

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Auteurs

Morgan Jenkins (M)

University of Alabama at Birmingham Heersink School of Medicine.

Angela R Seasely (AR)

Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.

Akila Subramaniam (A)

Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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